RNF7 ring finger protein 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNF7provided by HGNC
Official Full Name: ring finger protein 7provided by HGNC
Primary source: HGNC:HGNC:10070
See related: Ensembl:ENSG00000114125 MIM:603863; AllianceGenome:HGNC:10070
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SAG; ROC2; rbx2; CKBBP1
Summary: The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation machinery important for cell cycle progression and signal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the degradation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Annotation information: Note: SAG (Gene ID: 6295) and RNF7 (Gene ID: 9616) share the SAG symbol/alias in common. SAG is a widely used alternative name for ring finger protein 7 (RNF7), which can be confused with the official symbol for SAG (S-antigen visual arrestin, GeneID 6295). [01 Jun 2018]
Expression: Ubiquitous expression in testis (RPKM 15.8), adrenal (RPKM 15.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q23

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (141738298..141747560)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (144485514..144494774)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (141457140..141466402)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RNF7 Facilitated the Tumorigenesis of Pancreatic Cancer by Activating PI3K/Akt Signaling Pathway.
Title: RNF7 Facilitated the Tumorigenesis of Pancreatic Cancer by Activating PI3K/Akt Signaling Pathway.
RNF7 inhibits apoptosis and sunitinib sensitivity and promotes glycolysis in renal cell carcinoma via the SOCS1/JAK/STAT3 feedback loop.
Title: RNF7 inhibits apoptosis and sunitinib sensitivity and promotes glycolysis in renal cell carcinoma via the SOCS1/JAK/STAT3 feedback loop.
We demonstrated that RNF7 knockdown induced growth suppression of prostate cancer cells and inactivated ERK1/2 pathway, which suggested RNF7 might be a potential novel therapeutic target for CRPC.
Title: RNF7 knockdown inhibits prostate cancer tumorigenesis by inactivation of ERK1/2 pathway.
Results identified RNF7 to interact with CARMA2 regulating its NF-kappaB-activating capacity. Mechanistically, RNF7 influences CARMA2 signaling by regulating the ubiquitination state of MALT1 and the NF-kappaB-regulatory molecule NEMO.
Title: The E3 Ubiquitin Ligase RNF7 Negatively Regulates CARD14/CARMA2sh Signaling.
This is the first report on a diagnostic test for simultaneous genotyping of IFNL3, ABCB11, and RNF7 in Chronic hepatitis C (CHC) patients. Reliable and inexpensive, the assay should provide useful information for the clinical management of CHC, like identification of patients at risk of rapid disease progression or with high chances of response to classic therapy.
Title: Triplex High-Resolution Melting Assay for the Simultaneous Assessment of IFNL3 rs12979860, ABCB11 rs2287622, and RNF7 rs16851720 Genotypes in Chronic Hepatitis C Patients.
Sag is a Kras-cooperating oncogene that promotes lung tumorigenesis
Title: Inactivation of SAG/RBX2 E3 ubiquitin ligase suppresses KrasG12D-driven lung tumorigenesis.
NEDD4-1 overexpression sensitizes cancer cells to etoposide-induced apoptosis by reducing SAG levels through targeted degradation. SAG is added to a growing list of NEDD4-1 substrates and mediates its biological function.
Title: SAG/RBX2 is a novel substrate of NEDD4-1 E3 ubiquitin ligase and mediates NEDD4-1 induced chemosensitization.
SAG/RBX2 E3 ligase complexes with UBCH10 and UBE2S ubiquitin-conjugating enzymes to ubiquitylate beta-TrCP1 via K11-linkage for degradation.
Title: SAG/RBX2 E3 ligase complexes with UBCH10 and UBE2S E2s to ubiquitylate β-TrCP1 via K11-linkage for degradation.
RNF7 gene variant is associated with the risk of developing liver fibrosis and cirrhosis in an Eastern European population.
Title: PNPLA3 and RNF7 Gene Variants are Associated with the Risk of Developing Liver Fibrosis and Cirrhosis in an Eastern European Population.
MAF1, RNF7 and SETD3 are identified as PCNA-associated proteins in human cells and given this interaction with PCNA, Maf1, RNF7, and SetD3 are potentially involved in DNA replication, DNA repair, or associated processes.
Title: A fluorescent bimolecular complementation screen reveals MAF1, RNF7 and SETD3 as PCNA-associated proteins in human cells.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	Rbx1 I44A and Rbx2 I52A mutants disrupt the level of HIV-1 Vif-mediated APOBEC3G degradation in cells	PubMed
	vif	CUL5/RBX2/ELOB/ELOC/Vif/CBF-beta complex catalyzes polyubiquitin chain formation on A3G in the presence of ubiquitin E2 UBE2R1 (CDC34) or UBCH5b (UBE2D2)	PubMed
	vif	UBE2F and RBX2 are required for activation of the polyubiquitin synthesis activity of Vif/CBF-beta/CUL5, leading to HIV-1 Vif-mediated degradation of A3G in cells	PubMed
	vif	HIV-1 Vif can assemble into the Cul5-containing E3 ligase, the CUL5-RBX2-CBF-beta-ELOB-ELOC complex, in the presence of CBF-beta	PubMed
	vif	HIV-1 Vif is identified to have a physical interaction with ring finger protein 7 (RNF7; RBX2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93677 (e-PCR)
- UniSTS:92174

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

D11S3114 (e-PCR)
- UniSTS:152207

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NEDD8 ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables NEDD8 transferase activity	TAS Traceable Author Statement more info
enables copper ion binding	TAS Traceable Author Statement more info	PubMed
enables cullin family protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables cullin family protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum unfolded protein response	IDA Inferred from Direct Assay more info	PubMed
involved_in post-translational protein modification	TAS Traceable Author Statement more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein K11-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein neddylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_negative_effect reelin-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to redox state	TAS Traceable Author Statement more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of Cul5-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul5-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: RING-box protein 2

Names: CKII beta-binding protein 1; regulator of cullins 2; sensitive to apoptosis gene protein; sensitive to apoptosis zinc RING finger protein SAG; sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2; zinc RING finger protein SAG

NP_001188299.1

EC 2.3.2.27

EC 2.3.2.32

NP_055060.1

EC 2.3.2.27

EC 2.3.2.32

NP_899060.1

EC 2.3.2.27

EC 2.3.2.32

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001201370.2 → NP_001188299.1 RING-box protein 2 isoform 4

See identical proteins and their annotated locations for NP_001188299.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC112771, AW150174, BG742338, DB272382

Consensus CDS

CCDS56283.1

UniProtKB/TrEMBL

B2R4X4

Related

ENSP00000419084.1, ENST00000480908.1

Conserved Domains (1) summary

cl17238
Location:47 → 90

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
NM_014245.5 → NP_055060.1 RING-box protein 2 isoform 1

See identical proteins and their annotated locations for NP_055060.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC112771, AW150174, BG742338

Consensus CDS

CCDS3118.1

UniProtKB/Swiss-Prot

A8K1H9, A8MTB5, C9JYL3, D3DNF7, D3DNF8, Q9BXN8, Q9UBF6, Q9Y5M7

UniProtKB/TrEMBL

B2R4X4

Related

ENSP00000273480.3, ENST00000273480.4

Conserved Domains (1) summary

cd16466
Location:47 → 106

RING-H2_RBX2; RING finger, H2 subclass, found in RING-box protein 2 (RBX2) and similar proteins
NM_183237.3 → NP_899060.1 RING-box protein 2 isoform 3

See identical proteins and their annotated locations for NP_899060.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the coding region compared to variant 1, which causes a frameshift. The resulting shorter isoform (3) has a distinct C-terminus, as compared to isoform 1.

Source sequence(s)

AC112771, AW150174, BG716023, BG742338

Consensus CDS

CCDS43158.1

UniProtKB/Swiss-Prot

Q9UBF6

Related

ENSP00000376725.3, ENST00000393000.3

Conserved Domains (1) summary

cl17238
Location:28 → 55

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

RNA

NR_037702.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an alternate exon compared to variant 1, that causes a frameshift. The resulting transcript is a nonsense-mediated mRNA decay candidate and is not thought to be protein-coding.

Source sequence(s)

AC112771, AF312226, AW150174, BG742338
NR_037703.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses an alternate splice junction and contains an alternate exon compared to variant 1, that causes a frameshift. The resulting transcript is a nonsense-mediated mRNA decay candidate and is not thought to be protein-coding.

Source sequence(s)

AC112771, AW150174, BG720797, BG742338

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

141738298..141747560

Download

GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_007095770.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

144485514..144494774

Download

GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_008486859.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_183063.1: Suppressed sequence

Description

NM_183063.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.